Canonical Allele Identifier: CA645617279

Gene: MCOLN1

Linked Data

• COSMIC: COSM5516814

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525075dup , CM000681.2:g.7525075dup	GRCh38
NC_000019.9:g.7589961dup , CM000681.1:g.7589961dup	GRCh37
NC_000019.8:g.7495961dup	NCBI36
NG_015806.1:g.7466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.146dup MANE Select	ENSP00000264079.5:p.Met50HisfsTer?
ENST00000264079.10:c.146dup	ENSP00000264079.5:p.Met50HisfsTer?
ENST00000394321.9:n.226dup
ENST00000596390.1:n.262dup
ENST00000601003.1:c.146dup	ENSP00000469074.1:p.Met50HisfsTer?
NM_020533.2:c.146dup	NP_065394.1:p.Met50HisfsTer?
NM_020533.3:c.146dup MANE Select	NP_065394.1:p.Met50HisfsTer?